Results 131 to 140 of about 111,518 (268)

Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review

Molecular Genetics & Genomic Medicine, 2020
Background PWS is challenging to diagnose prenatally due to a lack of precise and well‐characterized fetal phenotypes and noninvasive markers. Here we present the case of prenatal diagnosis of Prader‐Willi syndrome, which was suspected with whole‐genome ...
Jekaterina Shubina, Ilya Y. Barkov, Olga K. Stupko, Maria V. Kuznetsova, Andrey Y. Goltsov, Taisya O. Kochetkova, Dmitry Y. Trofimov, Gennady T. Sukhikh   +7 more
doaj   +1 more source

Don't forget the legal framework: the public provision of non-invasive prenatal testing in England & Wales [PDF]

, 2015
If the central purpose of non-invasive prenatal testing (NIPT) is to deliver improved reproductive autonomy - by facilitating enhanced choice between the continuation and termination of pregnancy - any public funded regime ought to be compatible with the
Wale, Jeffrey
core   +1 more source

Global kidney health: Are we failing the silent pandemic?

Journal of Internal Medicine, EarlyView.
Abstract Chronic kidney disease (CKD), although not infectious, has a sharply rising global incidence, alarming rates of death and disability, and the potential to disrupt health systems and economies. Thus, it demands the urgency and global attention of past pandemics.
Taewon Yi, Daniel V. O'Hara, Adeera Levin   +2 more
wiley   +1 more source

Investigating the Role of Ultrasound in the Diagnosis of Oral Lesions: A Scoping Review

Oral Diseases, EarlyView.
ABSTRACT Aim To provide an overview of the diagnostic potential of Ultrasound to assess oral lesions using Magnetic Resonance Imaging, Computed Tomography/Cone‐beam computed tomography, or histopathology as the reference standard. Methods A literature search was conducted from the following databases: OVID Medline and Embase, Web of Science, Pubmed ...
Camila Pacheco‐Pereira, Sheryn Villarey, Swarna Yerebairapura Math, Konrad Lehmann, Carlos Alberto Figueredo, Fabiana T. Almeida   +5 more
wiley   +1 more source

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

Molecular Cytogenetics, 2019
Background Chromosome 18p deletion syndrome is a disease caused by the complete or partial deletion of the short arm of chromosome 18, there were few cases reported about the prenatal diagnosis of 18p deletion syndrome. Noninvasive prenatal testing (NIPT)
Ganye Zhao, Peng Dai, Shanshan Gao, Xuechao Zhao, Conghui Wang, Lina Liu, Xiangdong Kong   +6 more
doaj   +1 more source

Preferences for prenatal diagnosis of sickle-cell disorder: A discrete choice experiment comparing potential service users and health-care providers [PDF]

, 2017
BACKGROUND: Non-invasive prenatal diagnosis (NIPD) for sickle-cell disorder (SCD) is moving closer to implementation and studies considering stakeholder preferences are required to underpin strategies for offering NIPD in clinical practice.
Chitty, LS, Forya, F, Hill, M, Morris, S, Oteng-Ntim, E, Petrou, M   +5 more
core   +1 more source

Factors influencing obstetric ultrasound examination duration in a tertiary fetal center

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Objective To quantify scan duration across commonly performed obstetric ultrasound examinations in a tertiary fetal imaging center and to evaluate whether exam type, maternal body mass index (BMI), and sonographer experience independently influence scan time. Methods We conducted a retrospective cohort study of singleton pregnancies undergoing
Juliana Gevaerd Martins, Diana Aboukhater, Tetsuya Kawakita, Maya Vishna, Salimah Navaz Gangji, Alfred Abuhamad   +5 more
wiley   +1 more source

Blood Speckle Imaging as a Novel Adjunct in the Prenatal Assessment of Congenital Heart Disease: Insights From Aortic Arch Pathology and Septal Defects

Clinical Case Reports, Volume 14, Issue 4, April 2026.
Blood Speckle Imaging (BSI) is an innovative fetal echocardiography technique that enables the acquisition of high frame rate images and tracks moving blood cells. In a case initially suspected of interrupted aortic arch, BSI provided crucial additional insights, leading to a revised diagnosis.
Sarah van den Wildenberg, Andrea Stoop‐Berends, Ingrid M. van Beynum, Bas R. Rebel, Attie T. J. I. Go, Eric A. P. Steegers, Jérôme M. J. Cornette   +6 more
wiley   +1 more source

Decision-making by expectant parents: NIPT, NIPD, and current methods of prenatal screening for Down’s Syndrome (Evidence Review) [PDF]

, 2017
The objective of this review is to examine research exploring the decisions that women and couples make about prenatal screening and testing and the factors that influence their decisions.
Thomas, Gareth
core   +1 more source

New molecular tools for prenatal diagnosis [PDF]

, 2016
Prenatal diagnosis enables identification of severe disease in the fetus, and allows for planning and management of future pregnancies if an underlying genetic mechanism is identified.
Sahlin, Ellika
core   +1 more source